ClinVar Miner

List of variants in gene FBN1 reported as pathogenic by Eurofins NTD LLC (GA)

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000138.4(FBN1):c.5593_5594dup (p.Ile1866fs) rs886043709
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.6682dup (p.Tyr2228fs) rs886044547
NM_000138.5(FBN1):c.7016_7031dup (p.Gln2345fs) rs1597518081

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